Works by Gut, Ivo

Results: 126

Splicing enhances recruitment of methyltransferase HYPB/Setd2 and methylation of histone H3 Lys36.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 9, p. 977, doi. 10.1038/nsmb.2123

By:

de Almeida, Sérgio Fernandes;
Grosso, Ana Rita;
Koch, Frederic;
Fenouil, Romain;
Carvalho, Sílvia;
Andrade, Jorge;
Levezinho, Helena;
Gut, Marta;
Eick, Dirk;
Gut, Ivo;
Andrau, Jean-Christophe;
Ferrier, Pierre;
Carmo-Fonseca, Maria

Publication type:

Article

Transcription initiation platforms and GTF recruitment at tissue-specific enhancers and promoters.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 8, p. 956, doi. 10.1038/nsmb.2085

By:

Koch, Frederic;
Fenouil, Romain;
Gut, Marta;
Cauchy, Pierre;
Albert, Thomas K.;
Zacarias-Cabeza, Joaquin;
Spicuglia, Salvatore;
de la Chapelle, Albane Lamy;
Heidemann, Martin;
Hintermair, Corinna;
Eick, Dirk;
Gut, Ivo;
Ferrier, Pierre;
Andrau, Jean-Christophe

Publication type:

Article

From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1263, doi. 10.1002/humu.23114

By:

Laurie, Steve;
Fernandez‐Callejo, Marcos;
Marco‐Sola, Santiago;
Trotta, Jean‐Remi;
Camps, Jordi;
Chacón, Alejandro;
Espinosa, Antonio;
Gut, Marta;
Gut, Ivo;
Heath, Simon;
Beltran, Sergi

Publication type:

Article

High-Specificity Single-Tube Multiplex Genotyping Using Ribo- PAP PCR, Tag Primers, Alkali Cleavage of RNA/ DNA Chimeras and MALDI- TOF MS.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 266, doi. 10.1002/humu.22227

By:

Mauger, Florence;
Gelfand, David H.;
Gupta, Amar;
Bodepudi, Veeraiah;
Will, Stephen G.;
Bauer, Keith;
Myers, Thomas W.;
Gut, Ivo G.

Publication type:

Article

High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: Implications for haplotype tagging.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 517, doi. 10.1002/humu.20100

By:

Allcock, Richard J. N.;
Windsor, Lydia;
Gut, Ivo G.;
Kucharzak, Ramon;
Sobre, Laetitia;
Lechner, Doris;
Garnier, Jean-Guillaume;
Baltic, Svetlana;
Christiansen, Frank T.;
Price, Patricia

Publication type:

Article

DNA analysis by MALDI-TOF mass spectrometry.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 437, doi. 10.1002/humu.20023

By:

Gut, Ivo Glynne

Publication type:

Article

Automation in genotyping of single nucleotide polymorphisms.

Published in:

Human Mutation, 2001, v. 17, n. 6, p. 475, doi. 10.1002/humu.1131

By:

Gut, Ivo G.

Publication type:

Article

Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37389-7

By:

González-Rincón, Julia;
Gómez, Sagrario;
Martinez, Nerea;
Troulé, Kevin;
Perales-Patón, Javier;
Derdak, Sophia;
Beltrán, Sergi;
Fernández-Cuevas, Belén;
Pérez-Sanz, Nuria;
Nova-Gurumeta, Sara;
Gut, Ivo;
Al-Shahrour, Fátima;
Piris, Miguel A.;
García-Marco, José A.;
Sánchez-Beato, Margarita

Publication type:

Article

Site-specific methylation and acetylation of lysine residues in the C-terminal domain (CTD) of RNA polymerase II.

Published in:

Transcription (2154-1264), 2015, v. 6, n. 5, p. 91, doi. 10.1080/21541264.2015.1114983

By:

Voss, Kirsten;
Forné, Ignasi;
Descostes, Nicolas;
Hintermair, Corinna;
Schüller, Roland;
Maqbool, Muhammad Ahmad;
Heidemann, Martin;
Flatley, Andrew;
Imhof, Axel;
Gut, Marta;
Gut, Ivo;
Kremmer, Elisabeth;
Andrau, Jean-Christophe;
Eick, Dirk

Publication type:

Article

Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 73, doi. 10.1038/ejhg.2009.117

By:

Boissonnas, Céline Chalas;
Abdalaoui, Hafida El;
Haelewyn, Virginie;
Fauque, Patricia;
Dupont, Jean Michel;
Gut, Ivo;
Vaiman, Daniel;
Jouannet, Pierre;
Tost, Jörg;
Jammes, Hélène

Publication type:

Article

Investigation of the fine structure of European populations with applications to disease association studies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1413, doi. 10.1038/ejhg.2008.210

By:

Heath, Simon C.;
Gut, Ivo G.;
Brennan, Paul;
McKay, James D.;
Bencko, Vladimir;
Fabianova, Eleonora;
Foretova, Lenka;
Georges, Michel;
Janout, Vladimir;
Kabesch, Michael;
Krokan, Hans E.;
Elvestad, Maiken B.;
Lissowska, Jolanta;
Mates, Dana;
Rudnai, Peter;
Skorpen, Frank;
Schreiber, Stefan;
Soria, José M.;
Syvänen, Ann-Christine;
Meneton, Pierre

Publication type:

Article

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research.

Published in:

JGIM: Journal of General Internal Medicine, 2014, v. 29, p. 780, doi. 10.1007/s11606-014-2908-8

By:

Thompson, Rachel;
Johnston, Louise;
Taruscio, Domenica;
Monaco, Lucia;
Béroud, Christophe;
Gut, Ivo;
Hansson, Mats;
't Hoen, Peter-Bram;
Patrinos, George;
Dawkins, Hugh;
Ensini, Monica;
Zatloukal, Kurt;
Koubi, David;
Heslop, Emma;
Paschall, Justin;
Posada, Manuel;
Robinson, Peter;
Bushby, Kate;
Lochmüller, Hanns

Publication type:

Article

Utilization of the three high-throughput SNP genotyping methods, the GOOD assay, Amplifluor and TaqMan, in diploid and polyploid plants.

Published in:

Theoretical & Applied Genetics, 2006, v. 112, n. 6, p. 1115, doi. 10.1007/s00122-006-0213-6

By:

Giancola, Sandra;
McKhann, Heather I.;
Bérard, Aurélie;
Camilleri, Christine;
Durand, Stéphanie;
Libeau, Pierre;
Roux, Fabrice;
Reboud, Xavier;
Gut, Ivo G.;
Brunel, Dominique

Publication type:

Article

Multiplex target protein imaging in tissue sections by mass spectrometry - TAMSIM.

Published in:

Rapid Communications in Mass Spectrometry: RCM, 2007, v. 21, n. 6, p. 823, doi. 10.1002/rcm.2895

By:

Thiery, Gwendoline;
Shchepinov, Mikhail S.;
Southern, Edwin M.;
Audebourg, Anne;
Audard, Virginie;
Terris, Benoît;
Gut, Ivo G.

Publication type:

Article

Extension of the GOOD assay for genotyping single nucleotide polymorphisms by matrix-assisted laser desorption/ionization mass spectrometry.

Published in:

Rapid Communications in Mass Spectrometry: RCM, 2003, v. 17, n. 12, p. 1265, doi. 10.1002/rcm.1050

By:

Sascha Sauer;
Ivo G. Gut

Publication type:

Article

Analysis of negatively 'charge tagged' DNA by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

Published in:

Rapid Communications in Mass Spectrometry: RCM, 1999, v. 13, n. 17, p. 1739, doi. 10.1002/(SICI)1097-0231(19990915)13:17<1739::AID-RCM708>3.0.CO;2-7

By:

Berlin, Kurt;
Gut, Ivo G.

Publication type:

Article

Analysis of DNA by 'Charge Tagging' and Matrix-assisted Laser Desorption/Ionization Mass Spectrometry.

Published in:

Rapid Communications in Mass Spectrometry: RCM, 1997, v. 11, n. 1, p. 43, doi. 10.1002/(SICI)1097-0231(19970115)11:1<43::AID-RCM817>3.0.CO;2-H

By:

Gut, Ivo G.;
Jeffery, William A.;
Pappin, Darryl J. C.;
Beck, Stephan

Publication type:

Article

Genome-wide association study identifies three loci associated with melanoma risk.

Published in:

Nature Genetics, 2009, v. 41, n. 8, p. 920, doi. 10.1038/ng.411

By:

Bishop, D. Timothy;
Demenais, Florence;
Iles, Mark M.;
Harland, Mark;
Taylor, John C.;
Corda, Eve;
Randerson-Moor, Juliette;
Aitken, Joanne F.;
Avril, Marie-Francoise;
Azizi, Esther;
Bakker, Bert;
Bianchi-Scarrà, Giovanna;
Paillerets, Brigitte Bressac-de;
Calista, Donato;
Cannon-Albright, Lisa A.;
Chin-A-Woeng, Thomas;
Dębniak, Tadeusz;
Galore-Haskel, Gilli;
Ghiorzo, Paola;
Gut, Ivo

Publication type:

Article

SNP and haplotype mapping for genetic analysis in the rat.

Published in:

Nature Genetics, 2008, v. 40, n. 5, p. 560, doi. 10.1038/ng.124

By:

Saar, Kathrin;
Beck, Alfred;
Bihoreau, Marie-Thérèse;
Birney, Ewan;
Brocklebank, Denise;
Yuan Chen;
Cuppen, Edwin;
Demonchy, Stephanie;
Dopazo, Joaquin;
Flicek, Paul;
Foglio, Mario;
Fujiyama, Asao;
Gut, Ivo G.;
Gauguier, Dominique;
Guigo, Roderic;
Guryev, Victor;
Heinig, Matthias;
Hummel, Oliver;
Jahn, Niels;
Klages, Sven

Publication type:

Article

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

Published in:

Nature Genetics, 2007, v. 39, n. 10, p. 1197, doi. 10.1038/ng2108

By:

Menzel, Stephan;
Garner, Chad;
Gut, Ivo;
Matsuda, Fumihiko;
Yamaguchi, Masao;
Heath, Simon;
Foglio, Mario;
Zelenika, Diana;
Boland, Anne;
Rooks, Helen;
Best, Steve;
Spector, Tim D.;
Farrall, Martin;
Lathrop, Mark;
Thein, Swee Lay

Publication type:

Article

A genome-wide association study of global gene expression.

Published in:

Nature Genetics, 2007, v. 39, n. 10, p. 1202, doi. 10.1038/ng2109

By:

Dixon, Anna L.;
Liming Liang;
Moffatt, Miriam F.;
Wei Chen;
Heath, Simon;
Wong, Kenny C. C.;
Taylor, Jenny;
Burnett, Edward;
Gut, Ivo;
Farrall, Martin;
Lathrop, G. Mark;
Abecasis, Gonçalo R.;
Cookson, William O. C.

Publication type:

Article

Duplicating SNPs.

Published in:

Nature Genetics, 2004, v. 36, n. 8, p. 789, doi. 10.1038/ng0804-789

By:

Gut, Ivo G.;
Lathrop, G. Mark

Publication type:

Article

Divergent transcription is associated with promoters of transcriptional regulators.

Published in:

BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-914

By:

Andrau, Jean-Christophe;
Belhocine, Mohamed;
Bergon, Aurélie;
Fenouil, Romain;
Garibal, Marc-Antoine;
Griffon, Aurélien;
Gut, Marta;
Gut, Ivo;
Holota, Hélène;
Imbert, Jean;
Koch, Frederic;
Lepoivre, Cyrille;
Loriod, Beatrice;
Maqbool, Muhammad Ahmad;
Puthier, Denis;
Spicuglia, Salvatore;
Vanhille, Laurent;
Yammine, Miriam;
Zacarias-Cabeza, Joaquin

Publication type:

Article

A mechanistic basis for amplification differences between samples and between genome regions.

Published in:

BMC Genomics, 2012, v. 13, n. 1, p. 455, doi. 10.1186/1471-2164-13-455

By:

Veal, Colin D.;
Freeman, Peter J.;
Jacobs, Kevin;
Lancaster, Owen;
Jamain, St�phane;
Leboyer, Marion;
Albanes, Demetrius;
Vaghela, Reshma R.;
Gut, Ivo;
Chanock, Stephen J.;
Brookes, Anthony J.

Publication type:

Article

A whole genome Bayesian scan for adaptive genetic divergence in West African cattle.

Published in:

BMC Genomics, 2009, v. 10, p. 550, doi. 10.1186/1471-2164-10-550

By:

Gautier, Mathieu;
Flori, Laurence;
Riebler, Andrea;
Jaffrézic, Florence;
Laloé, Denis;
Gut, Ivo;
Moazami-Goudarzi, Katayoun;
Foulley, Jean-Louis

Publication type:

Article

Genetic analysis of an F<sub>2</sub> intercross between two chicken lines divergently selected for body-weight.

Published in:

BMC Genomics, 2009, v. 10, p. 1, doi. 10.1186/1471-2164-10-248

By:

Wahlberg, Per;
Carlborg, Örjan;
Foglio, Mario;
Tordoir, Xavier;
Syvänen, Ann-Christine;
Lathrop, Mark;
Gut, Ivo G.;
Siegel, Paul B.;
Andersson, Leif

Publication type:

Article

Performance comparison of two microarray platforms to assess differential gene expression in human monocyte and macrophage cells.

Published in:

BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-302

By:

Maouche, Seraya;
Poirier, Odette;
Godefroy, Tiphaine;
Olaso, Robert;
Gut, Ivo;
Collet, Jean-Phillipe;
Montalescot, Gilles;
Cambien, François

Publication type:

Article

Machine learning and multi-omics data in chronic lymphocytic leukemia: the future of precision medicine?

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1304661

By:

Tsagiopoulou, Maria;
Gut, Ivo G.

Publication type:

Article

Correction: Colorectal Adenomas Contain Multiple Somatic Mutations That Do Not Coincide with Synchronous Adenocarcinoma Specimens.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0125459

By:

Vaqué, José P.;
Martínez, Nerea;
Varela, Ignacio;
Fernández, Fidel;
Mayorga, Marta;
Derdak, Sophia;
Beltrán, Sergi;
Moreno, Thaidy;
Almaraz, Carmen;
De las Heras, Gonzalo;
Bayés, Mónica;
Gut, Ivo;
Crespo, Javier;
Piris, Miguel A.

Publication type:

Article

Colorectal Adenomas Contain Multiple Somatic Mutations That Do Not Coincide with Synchronous Adenocarcinoma Specimens.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119946

By:

Vaqué, José P.;
Martínez, Nerea;
Varela, Ignacio;
Fernández, Fidel;
Mayorga, Marta;
Derdak, Sophia;
Beltrán, Sergi;
Moreno, Thaidy;
Almaraz, Carmen;
De las Heras, Gonzalo;
Bayés, Mónica;
Gut, Ivo;
Crespo, Javier;
Piris, Miguel A.

Publication type:

Article

Development and Validation of a 20K Single Nucleotide Polymorphism (SNP) Whole Genome Genotyping Array for Apple (Malus × domestica Borkh).

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110377

By:

Bianco, Luca;
Cestaro, Alessandro;
Sargent, Daniel James;
Banchi, Elisa;
Derdak, Sophia;
Di Guardo, Mario;
Salvi, Silvio;
Jansen, Johannes;
Viola, Roberto;
Gut, Ivo;
Laurens, Francois;
Chagné, David;
Velasco, Riccardo;
van de Weg, Eric;
Troggio, Michela

Publication type:

Article

Common and Rare Variant Analysis in Early-Onset Bipolar Disorder Vulnerability.

Published in:

PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104326

By:

Jamain, Stéphane;
Cichon, Sven;
Etain, Bruno;
Mühleisen, Thomas W.;
Georgi, Alexander;
Zidane, Nora;
Chevallier, Lucie;
Deshommes, Jasmine;
Nicolas, Aude;
Henrion, Annabelle;
Degenhardt, Franziska;
Mattheisen, Manuel;
Priebe, Lutz;
Mathieu, Flavie;
Kahn, Jean-Pierre;
Henry, Chantal;
Boland, Anne;
Zelenika, Diana;
Gut, Ivo;
Heath, Simon

Publication type:

Article

<i>ERBB2</i> in Cat Mammary Neoplasias Disclosed a Positive Correlation between RNA and Protein Low Expression Levels: A Model for erbB-2 Negative Human Breast Cancer.

Published in:

PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083673

By:

Santos, Sara;
Baptista, Cláudia S.;
Abreu, Rui M. V.;
Bastos, Estela;
Amorim, Irina;
Gut, Ivo G.;
Gärtner, Fátima;
Chaves, Raquel

Publication type:

Article

ProteinSeq: High-Performance Proteomic Analyses by Proximity Ligation and Next Generation Sequencing.

Published in:

PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025583

By:

Darmanis, Spyros;
Nong, Rachel Yuan;
Vänelid, Johan;
Siegbahn, Agneta;
Ericsson, Olle;
Fredriksson, Simon;
Bäcklin, Christofer;
Gut, Marta;
Heath, Simon;
Gut, Ivo Glynne;
Wallentin, Lars;
Gustafsson, Mats G.;
Kamali-Moghaddam, Masood;
Landegren, Ulf

Publication type:

Article

Myelin Basic Protein as a Novel Genetic Risk Factor in Rheumatoid Arthritis--A Genome-Wide Study Combined with Immunological Analyses.

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020457

By:

Terao, Chikashi;
Ohmura, Koichiro;
Katayama, Masaki;
Takahashi, Meiko;
Kokubo, Miki;
Diop, Gora;
Toda, Yoshinobu;
Yamamoto, Natsuki;
Shinkura, Reiko;
Shimizu, Masakazu;
Gut, Ivo;
Heath, Simon;
Melchers, Inga;
Manabe, Toshiaki;
Lathrop, Mark;
Mimori, T. suneyo;
Yamada, Ryo;
Matsuda, Fumihiko

Publication type:

Article

Unifying Candidate Gene and GWAS Approaches in Asthma.

Published in:

PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0013894

By:

Michel, Sven;
Liang, Liming;
Depner, Martin;
Klopp, Norman;
Ruether, Andreas;
Kumar, Ashish;
Schedel, Michaela;
Vogelberg, Christian;
von Mutius, Erika;
von Berg, Andrea;
Bufe, Albrecht;
Rietschel, Ernst;
Heinzmann, Andrea;
Laub, Otto;
Simma, Burkhard;
Frischer, Thomas;
Genuneit, Jon;
Gut, Ivo G.;
Schreiber, Stefan;
Lathrop, Mark

Publication type:

Article

Transcriptome Analysis Describing New Immunity and Defense Genes in Peripheral Blood Mononuclear Cells of Rheumatoid Arthritis Patients.

Published in:

PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006803

By:

Teixeira, Vitor Hugo;
Olaso, Robert;
Martin-Magniette, Marie-Laure;
Lasbleiz, Sandra;
Jacq, Laurent;
Oliveira, Catarina Resende;
Hilliquin, Pascal;
Gut, Ivo;
Cornelis, François;
Petit-Teixeira, Elisabeth

Publication type:

Article

The Genome Response to Artificial Selection: A Case Study in Dairy Cattle.

Published in:

2009

By:

Flori, Laurence;
Fritz, Sébastien;
Jaffrézic, Florence;
Boussaha, Mekki;
Gut, Ivo;
Heath, Simon;
Foulley, Jean-Louis;
Gautier, Mathieu

Publication type:

Case Study

The Phenol ⇌ 2,4-Cyclohexadienone Equilibrium in Aqueous Solution.

Published in:

Angewandte Chemie International Edition, 1986, v. 25, n. 4, p. 344, doi. 10.1002/anie.198603441

By:

Capponi, Marco;
Gut, Ivo;
Wirz, Jakob

Publication type:

Article

ELIXIR‐EXCELERATE: establishing Europe's data infrastructure for the life science research of the future.

Published in:

EMBO Journal, 2021, v. 40, n. 6, p. 1, doi. 10.15252/embj.2020107409

By:

Harrow, Jennifer;
Hancock, John;
Blomberg, Niklas;
Brunak, Søren;
Capella‐Gutierrez, Salvador;
Durinx, Christine;
Evelo, Chris T.;
Goble, Carole;
Gut, Ivo;
Ison, Jon;
Keane, Thomas;
Leskošek, Brane;
Matyska, Luděk;
McEntyre, Johanna;
Miguel, Célia;
Navarro, Arcadi;
Newhouse, Steven;
Nyrönen, Tommi;
Palagi, Patricia;
Persson, Bengt

Publication type:

Article

Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond.

Published in:

BMC Bioinformatics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12859-024-05993-2

By:

Leist, Ivo C.;
Rivas-Torrubia, María;
Alarcón-Riquelme, Marta E.;
Barturen, Guillermo;
Consortium, PRECISESADS Clinical;
Gut, Ivo G.;
Rueda, Manuel

Publication type:

Article

Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study.

Published in:

JNCI: Journal of the National Cancer Institute, 2011, v. 103, n. 5, p. 425, doi. 10.1093/jnci/djq563

By:

Fletcher, Olivia;
Johnson, Nichola;
Orr, Nick;
Hosking, Fay J.;
Gibson, Lorna J.;
Walker, Kate;
Zelenika, Diana;
Gut, Ivo;
Heath, Simon;
Palles, Claire;
Coupland, Ben;
Broderick, Peter;
Schoemaker, Minouk;
Jones, Michael;
Williamson, Jill;
Chilcott-Burns, Sarah;
Tomczyk, Katarzyna;
Simpson, Gemma;
Jacobs, Kevin B.;
Chanock, Stephen J.

Publication type:

Article

Multi-organ single-cell transcriptomics of immune cells uncovered organ-specific gene expression and functions.

Published in:

Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03152-z

By:

Tsagiopoulou, Maria;
Rashmi, Sonal;
Aguilar-Fernandez, Sergio;
Nieto, Juan;
Gut, Ivo G.

Publication type:

Article

Genomic and Phenotypic Variation in Morphogenetic Networks of Two Candida albicans Isolates Subtends Their Different Pathogenic Potential.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2017.01997

By:

Cavalieri, Duccio;
Di Paola, Monica;
Rizzetto, Lisa;
Tocci, Noemi;
De Filippo, Carlotta;
Lionetti, Paolo;
Ardizzoni, Andrea;
Colombari, Bruna;
Paulone, Simona;
Gut, Ivo G.;
Berná, Luisa;
Gut, Marta;
Blanc, Julie;
Kapushesky, Misha;
Pericolini, Eva;
Blasi, Elisabetta;
Peppoloni, Samuele

Publication type:

Article

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3989, doi. 10.1093/hmg/ddx288

By:

Abiusi, Emanuela;
D'Alessandro, Manuela;
Dieterich, Klaus;
Quevarec, Loic;
Turczynski, Sandrina;
Valfort, Aurore-Cecile;
Mezin, Paulette;
Jouk, Pierre Simon;
Gut, Marta;
Gut, Ivo;
Bessereau, Jean Louis;
Melki, Judith

Publication type:

Article

A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33530-3

By:

Keraite, Ieva;
Becker, Philipp;
Canevazzi, Davide;
Frias-López, Cristina;
Dabad, Marc;
Tonda-Hernandez, Raúl;
Paramonov, Ida;
Ingham, Matthew John;
Brun-Heath, Isabelle;
Leno, Jordi;
Abulí, Anna;
Garcia-Arumí, Elena;
Heath, Simon Charles;
Gut, Marta;
Gut, Ivo Glynne

Publication type:

Article

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1594, doi. 10.1002/ajmg.a.38707

By:

Owen, David;
Töpf, Ana;
Preethish‐Kumar, Veeramani;
Lorenzoni, Paulo José;
Vroling, Bas;
Scola, Rosana Herminia;
Dias‐Tosta, Elza;
Geraldo, Argemiro;
Polavarapu, Kiran;
Nashi, Saraswati;
Cox, Daniel;
Evangelista, Teresinha;
Dawson, John;
Thompson, Rachel;
Senderek, Jan;
Laurie, Steven;
Beltran, Sergi;
Gut, Marta;
Gut, Ivo;
Nalini, Atchayaram

Publication type:

Article

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

Published in:

2018

By:

Vivanti, Alexandre;
Ozanne, Augustin;
Grondin, Cynthia;
Saliou, Guillaume;
Quevarec, Loic;
Maurey, Helène;
Aubourg, Patrick;
Benachi, Alexandra;
Gut, Marta;
Gut, Ivo;
Martinovic, Jelena;
Sénat, Marie Victoire;
Tawk, Marcel;
Melki, Judith

Publication type:

journal article

Evolution of Robustness to Protein Mistranslation by Accelerated Protein Turnover.

Published in:

PLoS Biology, 2015, v. 13, n. 10, p. 1, doi. 10.1371/journal.pbio.1002291

By:

Kalapis, Dorottya;
Bezerra, Ana R.;
Farkas, Zoltán;
Horvath, Peter;
Bódi, Zoltán;
Daraba, Andreea;
Szamecz, Béla;
Gut, Ivo;
Bayes, Mónica;
Santos, Manuel A. S.;
Pál, Csaba

Publication type:

Article

Whole genomes of Amazonian uakari monkeys reveal complex connectivity and fast differentiation driven by high environmental dynamism.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06901-3

By:

Hermosilla-Albala, Núria;
Silva, Felipe Ennes;
Cuadros-Espinoza, Sebastián;
Fontsere, Claudia;
Valenzuela-Seba, Alejandro;
Pawar, Harvinder;
Gut, Marta;
Kelley, Joanna L.;
Ruibal-Puertas, Sandra;
Alentorn-Moron, Pol;
Faella, Armida;
Lizano, Esther;
Farias, Izeni;
Hrbek, Tomas;
Valsecchi, Joao;
Gut, Ivo G.;
Rogers, Jeffrey;
Farh, Kyle Kai-How;
Kuderna, Lukas F. K.;
Marques-Bonet, Tomas

Publication type:

Article